Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000116445 Individual ID 00143683 Associated disease ALS Phenotype details increased deep tendon reflexes in the lower limbs (HP:0002395), hand interosseous muscle atrophy (HP:0007181), limb fasciculation (HP:0007289) and muscle fibrillation (HP:0010546)in right first interracial, biceps and both tibialis anterior muscles, tongue fasciculations (HP:0001308) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 25y (25 years) Age/Diagnosis 20y? Age/Onset 15y-20y Phenotype/Onset Difficulty in walking (HP:0002355) Protein - Owner name Ceren Tunca Database submission license No license selected Created by Ceren Tunca Date created 2017-12-03 21:23:44 +01:00 (CET) Date last edited 2017-12-04 13:14:09 +01:00 (CET)

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